MCID: MCR272
MIFTS: 20

Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Categories: Genetic diseases, Neuronal diseases, Immune diseases, Mental diseases, Rare diseases, Eye diseases

Aliases & Classifications for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

MalaCards integrated aliases for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3:

Name: Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 57 75 29 6
Mccrp3 57 75
Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
three unrelated french families have been reported (last curated april 2015)


HPO:

32
microcephaly and chorioretinopathy, autosomal recessive, 3:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

UniProtKB/Swiss-Prot : 75 Microcephaly and chorioretinopathy, autosomal recessive, 3: A disorder characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus. Variable ocular anomalies include microphthalmia, retinal folding, retinal detachment, optic nerve hypoplasia, absence of retinal vessels, round areas of chorioretinal atrophy, and attenuated electroretinogram. Most patients have mild developmental delay and mild learning difficulties.

MalaCards based summary : Microcephaly and Chorioretinopathy, Autosomal Recessive, 3, is also known as mccrp3. An important gene associated with Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 is TUBGCP4 (Tubulin Gamma Complex Associated Protein 4), and among its related pathways/superpathways is Cell Cycle, Mitotic. Affiliated tissues include retina, and related phenotypes are microcephaly and visual impairment

Description from OMIM: 616335

Related Diseases for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Symptoms & Phenotypes for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Head And Neck Eyes:
chorioretinopathy
punched-out appearance of the retina
microphthalmia
nystagmus
decreased visual acuity
more
Head And Neck Face:
dysmorphic facial features (1 family)

Neurologic Central Nervous System:
delayed development, mild
learning difficulties


Clinical features from OMIM:

616335

Human phenotypes related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 3:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 visual impairment 32 HP:0000505
3 microphthalmia 32 HP:0000568
4 nystagmus 32 HP:0000639
5 global developmental delay 32 HP:0001263
6 abnormal facial shape 32 occasional (7.5%) HP:0001999
7 reduced visual acuity 32 HP:0007663
8 chorioretinal dysplasia 32 HP:0007731

Drugs & Therapeutics for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Search Clinical Trials , NIH Clinical Center for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Genetic Tests for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Genetic tests related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 3:

# Genetic test Affiliating Genes
1 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 29 TUBGCP4

Anatomical Context for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

MalaCards organs/tissues related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 3:

41
Retina

Publications for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Variations for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

ClinVar genetic disease variations for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBGCP4 NM_014444.4(TUBGCP4): c.1746G> T (p.Leu582=) single nucleotide variant Pathogenic rs200092283 GRCh38 Chromosome 15, 43403697: 43403697
2 TUBGCP4 NM_014444.4(TUBGCP4): c.1746G> T (p.Leu582=) single nucleotide variant Pathogenic rs200092283 GRCh37 Chromosome 15, 43695895: 43695895
3 TUBGCP4 NM_014444.4(TUBGCP4): c.579dupT (p.Gly194Trpfs) duplication Pathogenic rs794726855 GRCh38 Chromosome 15, 43383360: 43383360
4 TUBGCP4 NM_014444.4(TUBGCP4): c.579dupT (p.Gly194Trpfs) duplication Pathogenic rs794726855 GRCh37 Chromosome 15, 43675558: 43675558
5 TUBGCP4 NM_014444.2(TUBGCP4): c.1732-?_*544+?del deletion Pathogenic
6 TUBGCP4 NM_014444.4(TUBGCP4): c.298delT (p.Tyr100Ilefs) deletion Pathogenic rs794726856 GRCh38 Chromosome 15, 43376593: 43376593
7 TUBGCP4 NM_014444.4(TUBGCP4): c.298delT (p.Tyr100Ilefs) deletion Pathogenic rs794726856 GRCh37 Chromosome 15, 43668791: 43668791

Expression for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Search GEO for disease gene expression data for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3.

Pathways for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Pathways related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.78 TP53BP1 TUBGCP4

GO Terms for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Sources for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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